TDL Genetics is a consultant-led service with extensive expertise in the testing, diagnosis and genetic counselling of inherited disorders.
Genetic tests are performed on DNA for molecular genetic analysis and on whole chromosomes for cytogenetic analysis. Some tests are part of profiles that can be linked with assays from other TDL disciplines, such as biochemistry and haematology, to give more comprehensive results for the patient.
Genetic tests are available for:
- Prenatal diagnosis and rapid trisomy screening by Amnio-PCR
- Carrier screening
- Newborn chromosome analysis
- Confirmation of symptomatic individuals and pre-symptomatic testing
- Genetic variation that influences risk of disease
- Identity studies (paternity, zygosity, tissue typing)
- Fertility studies
- Products of conception (click to view PDF)
Genetic testing is sometimes complex, and tests will vary in their ability to detect mutations or to detect all patients who have, or will develop, a disease. Some tests are diagnostic for a condition, while others are indicative or are associated with an altered risk for a condition. Results can affect the lives of individuals and have implications for their family, for insurance and employment. Where testing will predict the inheritance of a disease in a healthy person, counselling and consent are mandatory. For these tests, please complete the Genetic Request form. Our service provides result interpretation and risk assessment to patients and their family members. Genetic counselling can be arranged by TDL’s Consultant Clinical Geneticist.
Sample requirements and request procedures
Transport to the laboratory, required patient details, consent forms, and requests for additional tests.
Genetics tests and profiles
An A–Z directory of our more common tests and profiles which include gene panels, and genetic tests linked with assays from other TDL disciplines, such as biochemistry and haematology.
Sample requirements, clinical details, and referral tests.
Postnatal diagnosis (blood culture), prenatal diagnosis, solid tissue, FISH, and cell line karyology.
Specimen Receipt at The Doctors Laboratory is 24 hours a day.
TDL Genetics results service is available Monday to Friday 8:30–17:30.
The laboratory is also open for the processing of samples on Saturdays from 9:00–13:00.